A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12856122



Internal ID1788683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:77241227..77241480hg38UCSC Ensembl
Innerchr7:77241227..77241480hg38UCSC Ensembl
Outerchr7:77240763..77241991hg38UCSC Ensembl
chr7:76870544..76870797hg19UCSC Ensembl
Innerchr7:76870544..76870797hg19UCSC Ensembl
Outerchr7:76870080..76871308hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38254
hg19254
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613794
Supporting Variants
SamplesHG01670
Known GenesCCDC146
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12856122
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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