A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612948



Internal ID6999847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:41719081..41719888hg38UCSC Ensembl
Innerchr7:41719131..41719838hg38UCSC Ensembl
Outerchr7:41719031..41719938hg38UCSC Ensembl
chr7:41758679..41759486hg19UCSC Ensembl
Innerchr7:41758729..41759436hg19UCSC Ensembl
Outerchr7:41758629..41759536hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38808
hg19808
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12752181, essv12752185, essv12752179, essv12752184, essv12752180, essv12752189, essv12752186, essv12752187, essv12752183, essv12752182, essv12752188
SamplesHG03366, HG02852, NA19377, NA19023, NA19384, NA19917, HG02715, HG03120, NA19257, HG03064, HG02679
Known GenesINHBA-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612948
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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