A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12949236



Internal ID2951052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:123599571..123602583hg38UCSC Ensembl
Innerchr7:123599571..123602583hg38UCSC Ensembl
Outerchr7:123599386..123602784hg38UCSC Ensembl
chr7:123239625..123242637hg19UCSC Ensembl
Innerchr7:123239625..123242637hg19UCSC Ensembl
Outerchr7:123239440..123242838hg19UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg383013
hg193013
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614858
Supporting Variants
SamplesHG02807
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12949236
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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