A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12703733



Internal ID2900849
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612535
Supporting Variants
SamplesHG02571
Known GenesKLHL7-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12703733
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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