A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10468253



Internal ID470069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:38660017..38726534hg38UCSC Ensembl
Innerchr2:38660517..38726034hg38UCSC Ensembl
Outerchr2:38659017..38727534hg38UCSC Ensembl
chr2:38887159..38953676hg19UCSC Ensembl
Innerchr2:38887659..38953176hg19UCSC Ensembl
Outerchr2:38886159..38954676hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3866518
hg1966518
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590419
Supporting Variants
SamplesHG02386
Known GenesGALM
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10468253
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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