A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12769127



Internal ID2187080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:50417036..50422359hg38UCSC Ensembl
Innerchr7:50417036..50422359hg38UCSC Ensembl
Outerchr7:50416536..50422859hg38UCSC Ensembl
chr7:50484734..50490057hg19UCSC Ensembl
Innerchr7:50484734..50490057hg19UCSC Ensembl
Outerchr7:50484234..50490557hg19UCSC Ensembl
Cytoband7p12.2
Allele length
AssemblyAllele length
hg385324
hg195324
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613124
Supporting Variants
SamplesHG01974
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12769127
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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