A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591774



Internal ID6979102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101685848..101690561hg38UCSC Ensembl
Innerchr2:101685848..101690561hg38UCSC Ensembl
Outerchr2:101685627..101690803hg38UCSC Ensembl
chr2:102302310..102307023hg19UCSC Ensembl
Innerchr2:102302310..102307023hg19UCSC Ensembl
Outerchr2:102302089..102307265hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg384714
hg194714
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10597845, essv10597843, essv10597844
SamplesHG00330, HG00313, NA19072
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591774
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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