A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3444656



Internal ID15291608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75284505..75288403hg38UCSC Ensembl
Innerchr7:75285506..75287403hg38UCSC Ensembl
Outerchr7:75283505..75289403hg38UCSC Ensembl
chr7:74699316..74703214hg19UCSC Ensembl
Innerchr7:74700316..74702214hg19UCSC Ensembl
Outerchr7:74698316..74704214hg19UCSC Ensembl
chr7:74337252..74341150hg18UCSC Ensembl
Innerchr7:74338252..74340150hg18UCSC Ensembl
Outerchr7:74336252..74342150hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg383899
hg193899
hg183899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8696049
SamplesNA19240
Known GenesGTF2IP1, PMS2P5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3444656
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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