A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5468264



Internal ID9246349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:120664033..120674365hg38UCSC Ensembl
Outerchr7:120663876..120674518hg38UCSC Ensembl
Innerchr7:120304087..120314419hg19UCSC Ensembl
Outerchr7:120303930..120314572hg19UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg3810643
hg1910643
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2666660
Supporting Variants
SamplesNA12043
Known GenesKCND2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5468264
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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