A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604877



Internal ID6645127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42635864..42644156hg38UCSC Ensembl
Innerchr5:42635868..42644153hg38UCSC Ensembl
Outerchr5:42635861..42644160hg38UCSC Ensembl
chr5:42635966..42644258hg19UCSC Ensembl
Innerchr5:42635970..42644255hg19UCSC Ensembl
Outerchr5:42635963..42644262hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg388293
hg198293
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11883726, essv11883728, essv11883729, essv11883727
SamplesNA19436, NA19310, NA19463, HG01242
Known GenesGHR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604877
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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