A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5961047



Internal ID8938450
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 Flag1
Merged StatusS
Merged Variantsesv2668943
Supporting Variants
SamplesHG00638
Known GenesGUSBP10
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5961047
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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