A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668943



Internal ID9588362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:57171560..57194793hg38UCSC Ensembl
Outerchr7:57171403..57194946hg38UCSC Ensembl
Innerchr7:57239267..57262500hg19UCSC Ensembl
Outerchr7:57239110..57262653hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg3823544
hg1923544
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5961047, essv5950514
SamplesHG00638, NA19835
Known GenesGUSBP10
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668943
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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