A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13003997



Internal ID6360413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:149718207..149736150hg38UCSC Ensembl
Innerchr7:149718207..149736150hg38UCSC Ensembl
Outerchr7:149717707..149736650hg38UCSC Ensembl
chr7:149415298..149433239hg19UCSC Ensembl
Innerchr7:149415298..149433239hg19UCSC Ensembl
Outerchr7:149414798..149433739hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3817944
hg1917942
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615436
Supporting Variants
SamplesNA20291
Known GenesKRBA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13003997
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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