A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12857904



Internal ID2859720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:77676857..77687048hg38UCSC Ensembl
Innerchr7:77676860..77687046hg38UCSC Ensembl
Outerchr7:77676855..77687051hg38UCSC Ensembl
chr7:77306174..77316365hg19UCSC Ensembl
Innerchr7:77306177..77316363hg19UCSC Ensembl
Outerchr7:77306172..77316368hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3810192
hg1910192
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613804
Supporting Variants
SamplesHG02050
Known GenesRSBN1L-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12857904
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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