A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604334



Internal ID6991364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:22117440..22122648hg38UCSC Ensembl
Innerchr5:22117440..22122648hg38UCSC Ensembl
Outerchr5:22117224..22122884hg38UCSC Ensembl
chr5:22117549..22122757hg19UCSC Ensembl
Innerchr5:22117549..22122757hg19UCSC Ensembl
Outerchr5:22117333..22122993hg19UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg385209
hg195209
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11838782, essv11838786, essv11838787, essv11838785, essv11838781, essv11838780, essv11838784, essv11838783
SamplesHG01374, NA11918, HG01354, HG01134, HG01789, HG01137, HG01489, HG00234
Known GenesCDH12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604334
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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