A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12079454



Internal ID2081270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:142115399..142117367hg38UCSC Ensembl
Innerchr5:142115455..142117311hg38UCSC Ensembl
Outerchr5:142115343..142117423hg38UCSC Ensembl
chr5:141494964..141496932hg19UCSC Ensembl
Innerchr5:141495020..141496876hg19UCSC Ensembl
Outerchr5:141494908..141496988hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg381969
hg191969
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606993
Supporting Variants
SamplesHG02379
Known GenesNDFIP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12079454
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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