A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594647



Internal ID6981967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232381419..232409500hg38UCSC Ensembl
Innerchr2:232381919..232409000hg38UCSC Ensembl
Outerchr2:232380419..232410500hg38UCSC Ensembl
chr2:233246129..233274210hg19UCSC Ensembl
Innerchr2:233246629..233273710hg19UCSC Ensembl
Outerchr2:233245129..233275210hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3828082
hg1928082
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv765e214
Supporting Variantsessv10876829, essv10876834, essv10876841, essv10876842, essv10876827, essv10876833, essv10876832, essv10876839, essv10876835, essv10876823, essv10876838, essv10876836, essv10876828, essv10876826, essv10876825, essv10876822, essv10876824, essv10876840, essv10876830, essv10876837, essv10876843, essv10876831
SamplesHG03687, NA20752, NA20894, HG04038, HG03705, HG04022, HG03673, HG03079, HG03746, NA20845, NA20755, HG03771, HG02307, HG03871, NA19752, NA20362, NA19439, NA21095, HG03973, HG03600, HG03646, NA20849
Known GenesALPP, ALPPL2, ECEL1P2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594647
Frequency
Sample Size2504
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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