A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588979



Internal ID6976395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:224805901..224808821hg38UCSC Ensembl
Innerchr1:224805926..224808796hg38UCSC Ensembl
Outerchr1:224805876..224808846hg38UCSC Ensembl
chr1:224993603..224996523hg19UCSC Ensembl
Innerchr1:224993628..224996498hg19UCSC Ensembl
Outerchr1:224993578..224996548hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg382921
hg192921
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10308099, essv10308112, essv10308104, essv10308124, essv10308105, essv10308108, essv10308121, essv10308123, essv10308092, essv10308125, essv10308106, essv10308103, essv10308102, essv10308093, essv10308109, essv10308100, essv10308091, essv10308089, essv10308095, essv10308113, essv10308120, essv10308090, essv10308098, essv10308116, essv10308110, essv10308117, essv10308119, essv10308118, essv10308114, essv10308127, essv10308101, essv10308097, essv10308122, essv10308111, essv10308126, essv10308094, essv10308096, essv10308115, essv10308107
SamplesHG03366, HG02628, NA19204, NA18861, HG02433, HG03280, HG03455, HG02769, HG01694, NA19171, NA19762, NA19916, HG02860, NA19384, HG02703, HG03189, HG02588, NA19027, HG02977, HG02334, HG02582, HG03388, HG03391, NA19257, HG01890, HG02332, HG01990, NA18517, HG02546, HG02837, HG02611, HG03127, HG02464, HG03157, HG03351, HG01883, HG02855, HG03439, HG03271
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588979
Frequency
Sample Size2504
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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