A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612818



Internal ID6999718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:35682097..35685357hg38UCSC Ensembl
Innerchr7:35682097..35685357hg38UCSC Ensembl
Outerchr7:35681996..35685491hg38UCSC Ensembl
chr7:35721707..35724967hg19UCSC Ensembl
Innerchr7:35721707..35724967hg19UCSC Ensembl
Outerchr7:35721606..35725101hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg383261
hg193261
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12732045, essv12732046
SamplesNA20805, NA20770
Known GenesHERPUD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612818
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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