A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12713824



Internal ID2715640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:27098302..27108970hg38UCSC Ensembl
Innerchr7:27098302..27108970hg38UCSC Ensembl
Outerchr7:27097802..27109470hg38UCSC Ensembl
chr7:27137921..27148589hg19UCSC Ensembl
Innerchr7:27137921..27148589hg19UCSC Ensembl
Outerchr7:27137421..27149089hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg3810669
hg1910669
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612654
Supporting Variants
SamplesNA19185
Known GenesHOTAIRM1, HOXA2, HOXA3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12713824
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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