A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671270



Internal ID9937375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41350492..41369475hg38UCSC Ensembl
chr17:39506744..39525727hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3818984
hg1918984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6190042, essv6452063, essv5940402, essv5849380, essv5548217, essv6428243, essv5439735, essv6511173, essv6007518, essv6432574, essv5882433, essv6097851, essv5813952, essv5722150, essv6485148, essv5978600, essv5579952, essv6072990, essv5463958, essv5458661, essv6173759
SamplesNA18502, NA19204, NA18508, NA19355, NA19393, NA19190, NA18489, NA18916, NA19904, NA19239, NA19209, NA18908, NA19200, NA19152, NA19114, NA19375, NA19108, NA19444, NA19240, NA19093, NA18522
Known GenesKRT33A, KRT33B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671270
Frequency
Sample Size1151
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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