A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589788



Internal ID6977118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:9936488..9937667hg38UCSC Ensembl
Innerchr2:9936504..9937651hg38UCSC Ensembl
Outerchr2:9936472..9937683hg38UCSC Ensembl
chr2:10076617..10077796hg19UCSC Ensembl
Innerchr2:10076633..10077780hg19UCSC Ensembl
Outerchr2:10076601..10077812hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg381180
hg191180
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10406842, essv10406831, essv10406848, essv10406827, essv10406822, essv10406837, essv10406835, essv10406844, essv10406845, essv10406833, essv10406828, essv10406841, essv10406826, essv10406840, essv10406832, essv10406847, essv10406836, essv10406824, essv10406843, essv10406830, essv10406821, essv10406839, essv10406834, essv10406838, essv10406846, essv10406825, essv10406823, essv10406829
SamplesHG01485, HG02890, NA19350, NA19314, HG03133, HG03479, NA19172, HG02471, NA19456, NA19445, NA18867, NA19200, HG02716, NA18934, NA19347, HG03575, NA18871, HG02881, NA19320, NA19257, NA19440, HG01915, HG01958, HG01494, HG03304, NA19351, NA19185, NA19116
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589788
Frequency
Sample Size2504
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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