A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613933



Internal ID6654141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:83362430..83451993hg38UCSC Ensembl
Innerchr7:83362430..83451993hg38UCSC Ensembl
Outerchr7:83361930..83452493hg38UCSC Ensembl
chr7:82991746..83081309hg19UCSC Ensembl
Innerchr7:82991746..83081309hg19UCSC Ensembl
Outerchr7:82991246..83081809hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3889564
hg1989564
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12874116
SamplesHG04054
Known GenesSEMA3E
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613933
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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