A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12995110



Internal ID5607292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:144091478..144099047hg38UCSC Ensembl
Innerchr7:144091507..144099019hg38UCSC Ensembl
Outerchr7:144091450..144099076hg38UCSC Ensembl
chr7:143788571..143796140hg19UCSC Ensembl
Innerchr7:143788600..143796112hg19UCSC Ensembl
Outerchr7:143788543..143796169hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg387570
hg197570
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615317
Supporting Variants
SamplesNA19037
Known GenesOR2A12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12995110
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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