A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613725



Internal ID7000621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75621999..75623786hg38UCSC Ensembl
Innerchr7:75622013..75623773hg38UCSC Ensembl
Outerchr7:75621986..75623800hg38UCSC Ensembl
chr7:75251317..75253104hg19UCSC Ensembl
Innerchr7:75251331..75253091hg19UCSC Ensembl
Outerchr7:75251304..75253118hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg381788
hg191788
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12848039
SamplesHG01686
Known GenesHIP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613725
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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