A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594725



Internal ID6982045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:236446866..236447581hg38UCSC Ensembl
Innerchr2:236446866..236447581hg38UCSC Ensembl
Outerchr2:236446499..236448005hg38UCSC Ensembl
chr2:237355509..237356224hg19UCSC Ensembl
Innerchr2:237355509..237356224hg19UCSC Ensembl
Outerchr2:237355142..237356648hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38716
hg19716
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10885188, essv10885155, essv10885213, essv10885132, essv10885147, essv10885154, essv10885180, essv10885190, essv10885169, essv10885212, essv10885149, essv10885199, essv10885140, essv10885182, essv10885211, essv10885145, essv10885146, essv10885215, essv10885189, essv10885166, essv10885216, essv10885144, essv10885173, essv10885159, essv10885136, essv10885141, essv10885171, essv10885152, essv10885187, essv10885197, essv10885161, essv10885195, essv10885167, essv10885134, essv10885137, essv10885198, essv10885138, essv10885133, essv10885157, essv10885162, essv10885206, essv10885170, essv10885203, essv10885186, essv10885148, essv10885163, essv10885207, essv10885200, essv10885179, essv10885209, essv10885201, essv10885153, essv10885191, essv10885205, essv10885139, essv10885217, essv10885142, essv10885194, essv10885156, essv10885160, essv10885193, essv10885175, essv10885183, essv10885202, essv10885150, essv10885178, essv10885181, essv10885164, essv10885168, essv10885210, essv10885151, essv10885184, essv10885196, essv10885208, essv10885185, essv10885177, essv10885172, essv10885176, essv10885174, essv10885192, essv10885135, essv10885214, essv10885218, essv10885158, essv10885204, essv10885165, essv10885143
SamplesHG02614, HG01985, NA19909, NA19466, HG03175, NA18486, HG03515, HG02888, NA20356, HG02769, NA19107, HG03199, HG03385, NA19448, HG02952, HG03091, HG02620, NA19916, HG02645, NA19023, NA19681, HG02505, HG02562, HG03189, NA18868, NA19207, NA19317, NA19921, NA19451, NA19200, HG03169, HG03120, HG02977, HG03363, HG03511, HG03088, HG02334, HG02678, NA19391, NA18516, HG03294, NA18907, HG03311, NA20299, HG03136, HG03388, NA19031, HG02881, NA19320, NA19225, HG02594, HG01896, HG03240, NA19147, NA19434, HG02501, HG02983, NA19037, HG03117, HG02837, HG02317, NA20281, HG03557, HG03419, HG02814, NA19328, HG03565, HG02974, HG03157, HG03066, NA19351, HG03025, HG03049, HG02938, HG03351, HG02676, NA19102, HG02051, NA19121, NA19146, NA18522, HG03198, HG02808, HG02643, HG03303, HG03271, HG03196
Known GenesIQCA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594725
Frequency
Sample Size2504
Observed Gain0
Observed Loss87
Observed Complex0
Frequencyn/a


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