A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612537



Internal ID6999438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:23141554..23142817hg38UCSC Ensembl
Innerchr7:23141554..23142817hg38UCSC Ensembl
Outerchr7:23141158..23142896hg38UCSC Ensembl
chr7:23181173..23182436hg19UCSC Ensembl
Innerchr7:23181173..23182436hg19UCSC Ensembl
Outerchr7:23180777..23182515hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg381264
hg191264
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12703841, essv12703843, essv12703839, essv12703840, essv12703831, essv12703832, essv12703834, essv12703833, essv12703835, essv12703836, essv12703837, essv12703842, essv12703830, essv12703838
SamplesNA19466, HG02895, NA19119, HG02860, HG03209, HG02562, HG02315, HG02878, HG03064, HG03458, HG03039, HG03442, HG03401, NA19214
Known GenesKLHL7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612537
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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