A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605419



Internal ID6992441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:73767194..73769065hg38UCSC Ensembl
Innerchr5:73767194..73769065hg38UCSC Ensembl
Outerchr5:73766893..73769317hg38UCSC Ensembl
chr5:73063019..73064890hg19UCSC Ensembl
Innerchr5:73063019..73064890hg19UCSC Ensembl
Outerchr5:73062718..73065142hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381872
hg191872
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11944237, essv11944241, essv11944240, essv11944239, essv11944238, essv11944242, essv11944243, essv11944235, essv11944236
SamplesHG02583, NA18917, NA19384, HG02442, HG03132, HG03363, NA18523, NA19310, NA18876
Known GenesARHGEF28
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605419
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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