A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12772239



Internal ID1755102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:51728193..51775961hg38UCSC Ensembl
Innerchr7:51728210..51775945hg38UCSC Ensembl
Outerchr7:51728177..51775978hg38UCSC Ensembl
chr7:51795889..51843657hg19UCSC Ensembl
Innerchr7:51795906..51843641hg19UCSC Ensembl
Outerchr7:51795873..51843674hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg3847769
hg1947769
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613149
Supporting Variants
SamplesHG01618
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12772239
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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