A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639730



Internal ID6679820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2871961..2880875hg38UCSC Ensembl
Innerchr17:2871965..2880872hg38UCSC Ensembl
Outerchr17:2871958..2880879hg38UCSC Ensembl
chr17:2775255..2784169hg19UCSC Ensembl
Innerchr17:2775259..2784166hg19UCSC Ensembl
Outerchr17:2775252..2784173hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg388915
hg198915
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15585974, essv15585975, essv15585976
SamplesHG03015, HG03663, HG02780
Known GenesRAP1GAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639730
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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