A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11945131



Internal ID4912613
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605432
Supporting Variants
SamplesNA12749
Known GenesHEXB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11945131
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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