A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12668473



Internal ID3995880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:2427966..2429941hg38UCSC Ensembl
Innerchr7:2427980..2429927hg38UCSC Ensembl
Outerchr7:2427952..2429955hg38UCSC Ensembl
chr7:2467601..2469576hg19UCSC Ensembl
Innerchr7:2467615..2469562hg19UCSC Ensembl
Outerchr7:2467587..2469590hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg381976
hg191976
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611842
Supporting Variants
SamplesHG03645
Known GenesCHST12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12668473
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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