A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9765456



Internal ID18739702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:139030544..139037245hg38UCSC Ensembl
Outerchr5:139030312..139037338hg38UCSC Ensembl
Innerchr5:138366233..138372934hg19UCSC Ensembl
Outerchr5:138366001..138373027hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg387027
hg197027
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3566709
Supporting Variants
Samples
Known GenesSIL1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9765456
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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