A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7863908



Internal ID12969704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:63582753..63582759hg38UCSC Ensembl
Innerchr2:63582738..63582774hg38UCSC Ensembl
Outerchr2:63582732..63582780hg38UCSC Ensembl
chr2:63809887..63809893hg19UCSC Ensembl
Innerchr2:63809872..63809908hg19UCSC Ensembl
Outerchr2:63809866..63809914hg19UCSC Ensembl
chr2:63663391..63663397hg18UCSC Ensembl
Innerchr2:63663412..63663376hg18UCSC Ensembl
Outerchr2:63663370..63663418hg18UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg3857
hg1957
hg1857
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3386938
Supporting Variants
SamplesNA12005
Known GenesWDPCP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7863908
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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