A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10568570



Internal ID3750688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:84962096..84967367hg38UCSC Ensembl
Innerchr2:84962125..84967338hg38UCSC Ensembl
Outerchr2:84962067..84967396hg38UCSC Ensembl
chr2:85189219..85194490hg19UCSC Ensembl
Innerchr2:85189248..85194461hg19UCSC Ensembl
Outerchr2:85189190..85194519hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg385272
hg195272
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591525
Supporting Variants
SamplesHG03380
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10568570
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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