A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6428789



Internal ID9406192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:87925184..87956819hg38UCSC Ensembl
Outerchr14:87925147..87956869hg38UCSC Ensembl
Innerchr14:88391528..88423163hg19UCSC Ensembl
Outerchr14:88391491..88423213hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg3831723
hg1931723
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2665905
Supporting Variants
SamplesNA12716
Known GenesGALC
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6428789
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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