A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788485



Internal ID18829429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16719944..16941001hg38UCSC Ensembl
Innerchr1:17046439..17267496hg19UCSC Ensembl
Innerchr1:16919026..17140083hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38221058
hg19221058
hg18221058
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892414
Supporting Variants
Samples
Known GenesCROCC, ESPNP, LOC729574, MIR3675, MST1L
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=12
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788485
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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