A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12857905



Internal ID2859721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:77684823..77692571hg38UCSC Ensembl
Innerchr7:77684833..77692561hg38UCSC Ensembl
Outerchr7:77684813..77692581hg38UCSC Ensembl
chr7:77314140..77321888hg19UCSC Ensembl
Innerchr7:77314150..77321878hg19UCSC Ensembl
Outerchr7:77314130..77321898hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg387749
hg197749
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613805
Supporting Variants
SamplesHG00269
Known GenesRSBN1L-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12857905
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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