A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12848280



Internal ID2850096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:76031380..76045732hg38UCSC Ensembl
Innerchr7:76031880..76045232hg38UCSC Ensembl
Outerchr7:76030380..76046732hg38UCSC Ensembl
chr7:75660698..75675050hg19UCSC Ensembl
Innerchr7:75661198..75674550hg19UCSC Ensembl
Outerchr7:75659698..75676050hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3814353
hg1914353
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613750
Supporting Variants
SamplesHG04020
Known GenesSTYXL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12848280
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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