A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639729



Internal ID6679819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2839869..2847078hg38UCSC Ensembl
Innerchr17:2839909..2847038hg38UCSC Ensembl
Outerchr17:2839829..2847118hg38UCSC Ensembl
chr17:2743163..2750372hg19UCSC Ensembl
Innerchr17:2743203..2750332hg19UCSC Ensembl
Outerchr17:2743123..2750412hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg387210
hg197210
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15585973, essv15585972
SamplesHG00446, NA19213
Known GenesRAP1GAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639729
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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