A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640219



Internal ID7026994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:20892853..20897572hg38UCSC Ensembl
Innerchr17:20892853..20897572hg38UCSC Ensembl
Outerchr17:20892608..20897804hg38UCSC Ensembl
chr17:20796166..20800885hg19UCSC Ensembl
Innerchr17:20796166..20800885hg19UCSC Ensembl
Outerchr17:20795921..20801117hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg384720
hg194720
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15650507, essv15650503, essv15650509, essv15650506, essv15650508, essv15650504, essv15650505, essv15650502
SamplesHG03366, NA19130, HG03352, HG01048, HG02882, HG02678, HG01082, HG03072
Known GenesCCDC144NL, LOC440416
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640219
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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