A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12905042



Internal ID3988896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:98122400..98123367hg38UCSC Ensembl
Innerchr7:98122422..98123345hg38UCSC Ensembl
Outerchr7:98122378..98123389hg38UCSC Ensembl
chr7:97751712..97752679hg19UCSC Ensembl
Innerchr7:97751734..97752657hg19UCSC Ensembl
Outerchr7:97751690..97752701hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg38968
hg19968
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614247
Supporting Variants
SamplesHG03643
Known GenesLMTK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12905042
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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