A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594080



Internal ID6981400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207173010..207177161hg38UCSC Ensembl
Innerchr2:207173018..207177154hg38UCSC Ensembl
Outerchr2:207173003..207177169hg38UCSC Ensembl
chr2:208037734..208041885hg19UCSC Ensembl
Innerchr2:208037742..208041878hg19UCSC Ensembl
Outerchr2:208037727..208041893hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg384152
hg194152
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10830313, essv10830311, essv10830315, essv10830312, essv10830314, essv10830316, essv10830317
SamplesNA19374, NA19023, NA19383, HG02449, NA19434, HG03108, NA19475
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594080
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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