A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12076992



Internal ID2078808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140788143..140795935hg38UCSC Ensembl
Innerchr5:140788143..140795935hg38UCSC Ensembl
Outerchr5:140787643..140796435hg38UCSC Ensembl
chr5:140167728..140175520hg19UCSC Ensembl
Innerchr5:140167728..140175520hg19UCSC Ensembl
Outerchr5:140167228..140176020hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg387793
hg197793
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606955
Supporting Variants
SamplesHG01936
Known GenesPCDHA1, PCDHA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12076992
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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