A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593437



Internal ID6980761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:176060649..176066428hg38UCSC Ensembl
Innerchr2:176060652..176066426hg38UCSC Ensembl
Outerchr2:176060647..176066431hg38UCSC Ensembl
chr2:176925377..176931156hg19UCSC Ensembl
Innerchr2:176925380..176931154hg19UCSC Ensembl
Outerchr2:176925375..176931159hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg385780
hg195780
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10766552, essv10766553, essv10766548, essv10766535, essv10766540, essv10766547, essv10766551, essv10766537, essv10766539, essv10766546, essv10766549, essv10766545, essv10766550, essv10766543, essv10766542, essv10766541, essv10766534, essv10766544, essv10766538, essv10766536
SamplesHG02890, HG03378, HG03548, NA19379, HG03452, HG02952, HG02840, HG02595, HG02645, HG02502, HG02477, HG03088, HG03124, HG02666, NA19037, HG03433, NA19428, HG03432, NA19096, HG01464
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593437
Frequency
Sample Size2504
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer