A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591509



Internal ID6978837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:84262858..84267719hg38UCSC Ensembl
Innerchr2:84262870..84267707hg38UCSC Ensembl
Outerchr2:84262846..84267731hg38UCSC Ensembl
chr2:84489982..84494843hg19UCSC Ensembl
Innerchr2:84489994..84494831hg19UCSC Ensembl
Outerchr2:84489970..84494855hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg384862
hg194862
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10564683, essv10564682
SamplesNA19020, NA19380
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591509
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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