A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5975394



Internal ID8952797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:152326690..152329334hg38UCSC Ensembl
Outerchr7:152326653..152329384hg38UCSC Ensembl
Innerchr7:152023775..152026419hg19UCSC Ensembl
Outerchr7:152023738..152026469hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg382732
hg192732
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2666078
Supporting Variants
SamplesNA19625
Known GenesKMT2C
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5975394
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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