A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12971917



Internal ID2973733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:130269698..130270589hg38UCSC Ensembl
Innerchr7:130269698..130270589hg38UCSC Ensembl
Outerchr7:130269419..130270767hg38UCSC Ensembl
chr7:129909538..129910429hg19UCSC Ensembl
Innerchr7:129909538..129910429hg19UCSC Ensembl
Outerchr7:129909259..129910607hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg38892
hg19892
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615020
Supporting Variants
SamplesNA18989
Known GenesCPA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12971917
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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