A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10436737



Internal ID6915887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27587863..27588905hg38UCSC Ensembl
Innerchr2:27587863..27588905hg38UCSC Ensembl
Outerchr2:27587623..27589126hg38UCSC Ensembl
chr2:27810730..27811772hg19UCSC Ensembl
Innerchr2:27810730..27811772hg19UCSC Ensembl
Outerchr2:27810490..27811993hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg381043
hg191043
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590143
Supporting Variants
SamplesNA21115
Known GenesZNF512
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10436737
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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