A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5979912



Internal ID9878049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:33054078..33055041hg38UCSC Ensembl
Outerchr7:33054039..33055098hg38UCSC Ensembl
Innerchr7:33093690..33094653hg19UCSC Ensembl
Outerchr7:33093651..33094710hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg381060
hg191060
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2664735
Supporting Variants
SamplesNA20589
Known GenesNT5C3A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5979912
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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