A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644814



Internal ID6684878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54717424..54838844hg38UCSC Ensembl
Innerchr19:54717924..54838344hg38UCSC Ensembl
Outerchr19:54716424..54839844hg38UCSC Ensembl
chr19:55228923..55350299hg19UCSC Ensembl
Innerchr19:55229423..55349799hg19UCSC Ensembl
Outerchr19:55227923..55351299hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38121421
hg19121377
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv672e214
Supporting Variantsessv16098190, essv16098141, essv16098108, essv16098123, essv16098155, essv16098138, essv16098184, essv16098134, essv16098121, essv16098122, essv16098115, essv16098114, essv16098103, essv16098126, essv16098154, essv16098119, essv16098117, essv16098187, essv16098125, essv16098160, essv16098146, essv16098167, essv16098148, essv16098195, essv16098186, essv16098176, essv16098124, essv16098153, essv16098111, essv16098140, essv16098129, essv16098135, essv16098105, essv16098185, essv16098152, essv16098182, essv16098145, essv16098128, essv16098139, essv16098161, essv16098107, essv16098150, essv16098127, essv16098180, essv16098158, essv16098192, essv16098149, essv16098175, essv16098203, essv16098201, essv16098178, essv16098171, essv16098177, essv16098133, essv16098143, essv16098151, essv16098163, essv16098136, essv16098183, essv16098191, essv16098189, essv16098144, essv16098197, essv16098147, essv16098164, essv16098132, essv16098113, essv16098196, essv16098172, essv16098120, essv16098181, essv16098112, essv16098202, essv16098198, essv16098110, essv16098165, essv16098130, essv16098168, essv16098109, essv16098173, essv16098174, essv16098157, essv16098142, essv16098166, essv16098162, essv16098170, essv16098179, essv16098193, essv16098137, essv16098188, essv16098159, essv16098116, essv16098200, essv16098118, essv16098131, essv16098106, essv16098199, essv16098156, essv16098104, essv16098194, essv16098102, essv16098169
SamplesNA20588, HG03096, NA20882, NA19648, HG01173, NA20853, HG03652, NA19794, NA19909, HG03237, NA20899, HG03687, HG04194, HG02784, NA21100, HG02318, HG03300, HG03015, HG02727, NA19020, HG03895, HG03667, NA20894, NA21135, NA20861, HG03943, NA20850, HG01167, NA19119, HG02687, HG03874, NA18498, HG03479, HG01242, NA12761, HG03619, NA19041, HG03897, NA21109, HG00236, NA20896, HG03595, HG03746, NA19385, NA20342, NA21114, HG04029, NA20755, NA19921, HG00731, HG01122, HG02070, HG03787, NA19462, HG04107, HG01879, HG02775, HG04035, HG03775, HG03829, HG01073, NA20867, HG03871, NA21124, NA19042, HG03802, HG01241, NA18912, HG04063, HG02724, HG04152, HG03752, HG01286, NA20542, HG04093, HG04200, NA19308, HG04025, NA19309, NA21144, NA19712, NA12775, NA19473, NA20527, HG03850, HG01205, HG04099, HG03012, HG03727, NA06986, HG03779, NA21125, HG02700, HG03442, HG03863, NA21101, HG03716, HG03684, NA20758, HG01756, HG03955, HG01191
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL3, LOC100287534
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644814
Frequency
Sample Size2504
Observed Gain0
Observed Loss102
Observed Complex0
Frequencyn/a


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