A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3395496



Internal ID15242460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75301292..75309156hg38UCSC Ensembl
Innerchr7:75302290..75308156hg38UCSC Ensembl
Outerchr7:75300288..75310148hg38UCSC Ensembl
chr7:74930416..74938314hg19UCSC Ensembl
Innerchr7:74931416..74937314hg19UCSC Ensembl
Outerchr7:74929416..74939314hg19UCSC Ensembl
chr7:74768352..74776250hg18UCSC Ensembl
Innerchr7:74769352..74775250hg18UCSC Ensembl
Outerchr7:74767352..74777250hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg387865
hg197899
hg187899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3856e59
Supporting Variantsessv8696057
SamplesNA12878
Known GenesPMS2P5, SPDYE8P
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3395496
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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