A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696050



Internal ID15056112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75289205..75296604hg38UCSC Ensembl
Innerchr7:75290205..75295602hg38UCSC Ensembl
Outerchr7:75288205..75297557hg38UCSC Ensembl
chr7:74704016..74711414hg19UCSC Ensembl
Innerchr7:74705016..74710414hg19UCSC Ensembl
Outerchr7:74703016..74712414hg19UCSC Ensembl
chr7:74341952..74349350hg18UCSC Ensembl
Innerchr7:74342952..74348350hg18UCSC Ensembl
Outerchr7:74340952..74350350hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg387400
hg197399
hg187399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3426613
Supporting Variants
SamplesNA19239
Known GenesGTF2IP1, PMS2P5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696050
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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