A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591556



Internal ID6978884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86711268..86725576hg38UCSC Ensembl
Innerchr2:86711268..86725576hg38UCSC Ensembl
Outerchr2:86710768..86726076hg38UCSC Ensembl
chr2:86938391..86952699hg19UCSC Ensembl
Innerchr2:86938391..86952699hg19UCSC Ensembl
Outerchr2:86937891..86953199hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3814309
hg1914309
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10569008, essv10569007
SamplesNA21128, HG00409
Known GenesRMND5A, RNF103-CHMP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591556
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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