A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10846597



Internal ID3762724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:217091168..217092550hg38UCSC Ensembl
Innerchr2:217091168..217092550hg38UCSC Ensembl
Outerchr2:217091168..217092550hg38UCSC Ensembl
chr2:217955891..217957273hg19UCSC Ensembl
Innerchr2:217955891..217957273hg19UCSC Ensembl
Outerchr2:217955891..217957273hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg381383
hg191383
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594306
Supporting Variants
SamplesHG03391
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10846597
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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