A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10568873



Internal ID645101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:85707649..85708018hg38UCSC Ensembl
Innerchr2:85707649..85708018hg38UCSC Ensembl
Outerchr2:85707368..85708335hg38UCSC Ensembl
chr2:85934772..85935141hg19UCSC Ensembl
Innerchr2:85934772..85935141hg19UCSC Ensembl
Outerchr2:85934491..85935458hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38370
hg19370
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591534
Supporting Variants
SamplesHG00282
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10568873
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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