A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12673276



Internal ID2675092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:6707718..6752076hg38UCSC Ensembl
Innerchr7:6707868..6751926hg38UCSC Ensembl
Outerchr7:6707568..6752226hg38UCSC Ensembl
chr7:6747349..6791707hg19UCSC Ensembl
Innerchr7:6747499..6791557hg19UCSC Ensembl
Outerchr7:6747199..6791857hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3844359
hg1944359
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612043
Supporting Variants
SamplesHG02555
Known GenesPMS2CL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12673276
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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