A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589807



Internal ID6630096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10725667..10727280hg38UCSC Ensembl
Innerchr2:10725667..10727280hg38UCSC Ensembl
Outerchr2:10725460..10727488hg38UCSC Ensembl
chr2:10865793..10867406hg19UCSC Ensembl
Innerchr2:10865793..10867406hg19UCSC Ensembl
Outerchr2:10865586..10867614hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg381614
hg191614
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10406988, essv10406989
SamplesNA19443, NA19900
Known GenesATP6V1C2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589807
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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