A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605814



Internal ID6992751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:94043828..94045599hg38UCSC Ensembl
Innerchr5:94043852..94045575hg38UCSC Ensembl
Outerchr5:94043804..94045623hg38UCSC Ensembl
chr5:93379533..93381304hg19UCSC Ensembl
Innerchr5:93379557..93381280hg19UCSC Ensembl
Outerchr5:93379509..93381328hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg381772
hg191772
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11981479
SamplesNA19091
Known GenesFAM172A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605814
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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