A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25783395



Internal ID19167518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:48420289..48548314hg38UCSC Ensembl
Innerchr7:48459886..48587910hg19UCSC Ensembl
Innerchr7:48430432..48558456hg18UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38128026
hg19128025
hg18128025
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891106
Supporting Variants
Samples
Known GenesABCA13
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=75
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25783395
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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