A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12848279



Internal ID2497311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:76009631..76035709hg38UCSC Ensembl
Innerchr7:76009631..76035709hg38UCSC Ensembl
Outerchr7:76009131..76036209hg38UCSC Ensembl
chr7:75638949..75665027hg19UCSC Ensembl
Innerchr7:75638949..75665027hg19UCSC Ensembl
Outerchr7:75638449..75665527hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3826079
hg1926079
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613749
Supporting Variants
SamplesHG02219
Known GenesSTYXL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12848279
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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