A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604328



Internal ID6991358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:21834086..21837429hg38UCSC Ensembl
Innerchr5:21834086..21837429hg38UCSC Ensembl
Outerchr5:21833851..21837702hg38UCSC Ensembl
chr5:21834195..21837538hg19UCSC Ensembl
Innerchr5:21834195..21837538hg19UCSC Ensembl
Outerchr5:21833960..21837811hg19UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg383344
hg193344
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11836148, essv11836136, essv11836144, essv11836141, essv11836138, essv11836137, essv11836135, essv11836146, essv11836139, essv11836143, essv11836149, essv11836145, essv11836140, essv11836150, essv11836152, essv11836151, essv11836147, essv11836142
SamplesNA19466, HG03300, NA20294, NA19355, NA18504, NA19443, NA18498, HG03556, HG02315, NA18874, HG03212, NA19175, HG02307, HG02968, HG02470, NA19774, NA19473, HG02580
Known GenesCDH12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604328
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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