A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12756033



Internal ID6390552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:43040843..43047800hg38UCSC Ensembl
Innerchr7:43040861..43047782hg38UCSC Ensembl
Outerchr7:43040825..43047818hg38UCSC Ensembl
chr7:43080442..43087399hg19UCSC Ensembl
Innerchr7:43080460..43087381hg19UCSC Ensembl
Outerchr7:43080424..43087417hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg386958
hg196958
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612982
Supporting Variants
SamplesNA20339
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12756033
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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