A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9740436



Internal ID18367996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161595420..161653710hg38UCSC Ensembl
Outerchr1:161579211..161675381hg38UCSC Ensembl
Innerchr1:161565210..161623500hg19UCSC Ensembl
Outerchr1:161549001..161645171hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3896171
hg1996171
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3541689
Supporting Variants
Samples
Known GenesFCGR2B, FCGR2C, FCGR3B, HSPA7
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9740436
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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