A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12979560



Internal ID2981376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:137251587..137252917hg38UCSC Ensembl
Innerchr7:137251588..137252917hg38UCSC Ensembl
Outerchr7:137251587..137252918hg38UCSC Ensembl
chr7:136936334..136937664hg19UCSC Ensembl
Innerchr7:136936335..136937664hg19UCSC Ensembl
Outerchr7:136936334..136937665hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg381331
hg191331
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615165
Supporting Variants
SamplesNA19038
Known GenesPTN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12979560
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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