A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12671514



Internal ID3377846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:4654295..4663117hg38UCSC Ensembl
Innerchr7:4654795..4662617hg38UCSC Ensembl
Outerchr7:4653295..4664117hg38UCSC Ensembl
chr7:4693926..4702748hg19UCSC Ensembl
Innerchr7:4694426..4702248hg19UCSC Ensembl
Outerchr7:4692926..4703748hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg388823
hg198823
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611943
Supporting Variants
SamplesHG03025
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12671514
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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