A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605432



Internal ID6992454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:74683337..74698496hg38UCSC Ensembl
Innerchr5:74683387..74698446hg38UCSC Ensembl
Outerchr5:74683287..74698546hg38UCSC Ensembl
chr5:73979162..73994321hg19UCSC Ensembl
Innerchr5:73979212..73994271hg19UCSC Ensembl
Outerchr5:73979112..73994371hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3815160
hg1915160
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11945131
SamplesNA12749
Known GenesHEXB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605432
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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