A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594459



Internal ID6981779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:224230026..224232426hg38UCSC Ensembl
Innerchr2:224230026..224232426hg38UCSC Ensembl
Outerchr2:224229825..224232675hg38UCSC Ensembl
chr2:225094743..225097143hg19UCSC Ensembl
Innerchr2:225094743..225097143hg19UCSC Ensembl
Outerchr2:225094542..225097392hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg382401
hg192401
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10865162, essv10865184, essv10865182, essv10865165, essv10865178, essv10865158, essv10865171, essv10865160, essv10865168, essv10865181, essv10865176, essv10865173, essv10865167, essv10865183, essv10865175, essv10865159, essv10865180, essv10865179, essv10865161, essv10865169, essv10865163, essv10865166, essv10865172, essv10865174, essv10865177, essv10865164, essv10865170
SamplesNA18924, HG02836, HG02870, HG03515, HG02854, NA18498, NA19922, NA20340, NA19172, HG02545, NA19247, HG01104, HG02582, HG01882, NA18516, HG01049, HG02817, HG03446, NA19338, HG03046, HG02635, NA19019, HG02983, HG03469, HG03433, HG03127, HG03442
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594459
Frequency
Sample Size2504
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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