A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3447895



Internal ID15294844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75310949..75315544hg38UCSC Ensembl
Innerchr7:75311949..75314544hg38UCSC Ensembl
Outerchr7:75309949..75316544hg38UCSC Ensembl
chr7:74940116..74944714hg19UCSC Ensembl
Innerchr7:74941116..74943714hg19UCSC Ensembl
Outerchr7:74939116..74945714hg19UCSC Ensembl
chr7:74778052..74782650hg18UCSC Ensembl
Innerchr7:74779052..74781650hg18UCSC Ensembl
Outerchr7:74777052..74783650hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg384596
hg194599
hg184599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8696059
SamplesNA19239
Known GenesPMS2P5, SPDYE8P
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3447895
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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