A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891106



Internal ID19185502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:48420289..48548314hg38UCSC Ensembl
Outerchr7:48420289..48548314hg38UCSC Ensembl
Innerchr7:48459886..48587910hg19UCSC Ensembl
Outerchr7:48459886..48587910hg19UCSC Ensembl
Innerchr7:48430432..48558456hg18UCSC Ensembl
Outerchr7:48430432..48558456hg18UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38128026
hg19128025
hg18128025
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25783395
Samples
Known GenesABCA13
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891106
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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