A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640426



Internal ID7027201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:34644631..34652130hg38UCSC Ensembl
Innerchr17:34644631..34652130hg38UCSC Ensembl
Outerchr17:34644131..34652630hg38UCSC Ensembl
chr17:32971650..32979149hg19UCSC Ensembl
Innerchr17:32971650..32979149hg19UCSC Ensembl
Outerchr17:32971150..32979649hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg387500
hg197500
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15663986, essv15663985, essv15663987, essv15663988
SamplesHG00306, NA18874, HG00182, NA18873
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640426
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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