A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12756447



Internal ID2758263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:43585283..43592494hg38UCSC Ensembl
Innerchr7:43585283..43592494hg38UCSC Ensembl
Outerchr7:43584962..43592833hg38UCSC Ensembl
chr7:43624882..43632093hg19UCSC Ensembl
Innerchr7:43624882..43632093hg19UCSC Ensembl
Outerchr7:43624561..43632432hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg387212
hg197212
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612997
Supporting Variants
SamplesHG00328
Known GenesSTK17A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12756447
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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