A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612535



Internal ID6999436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:23093002..23101826hg38UCSC Ensembl
Innerchr7:23093039..23101790hg38UCSC Ensembl
Outerchr7:23092966..23101863hg38UCSC Ensembl
chr7:23132621..23141445hg19UCSC Ensembl
Innerchr7:23132658..23141409hg19UCSC Ensembl
Outerchr7:23132585..23141482hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg388825
hg198825
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12703734, essv12703741, essv12703736, essv12703740, essv12703735, essv12703738, essv12703737, essv12703733, essv12703739, essv12703732
SamplesNA20339, HG03449, HG02571, NA19913, NA18910, HG03476, HG03078, NA19160, HG03127, HG01912
Known GenesKLHL7-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612535
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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