A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12770073



Internal ID1571034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:51426304..51434857hg38UCSC Ensembl
Innerchr7:51426304..51434857hg38UCSC Ensembl
Outerchr7:51425804..51435357hg38UCSC Ensembl
chr7:51494001..51502554hg19UCSC Ensembl
Innerchr7:51494001..51502554hg19UCSC Ensembl
Outerchr7:51493501..51503054hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg388554
hg198554
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613139
Supporting Variants
SamplesHG01455
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12770073
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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