A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696048



Internal ID15056103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75282905..75288703hg38UCSC Ensembl
Innerchr7:75283905..75287703hg38UCSC Ensembl
Outerchr7:75281905..75289703hg38UCSC Ensembl
chr7:74697716..74703514hg19UCSC Ensembl
Innerchr7:74698716..74702514hg19UCSC Ensembl
Outerchr7:74696716..74704514hg19UCSC Ensembl
chr7:74335652..74341450hg18UCSC Ensembl
Innerchr7:74336652..74340450hg18UCSC Ensembl
Outerchr7:74334652..74342450hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg385799
hg195799
hg185799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3379624
Supporting Variants
SamplesNA19239
Known GenesGTF2IP1, PMS2P5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696048
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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