A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25786859



Internal ID18830776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:219172722..219273269hg38UCSC Ensembl
Innerchr2:220037444..220137991hg19UCSC Ensembl
Innerchr2:219745688..219846235hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38100548
hg19100548
hg18100548
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893555
Supporting Variants
Samples
Known GenesABCB6, ANKZF1, ATG9A, CNPPD1, FAM134A, GLB1L, STK16, TUBA4A, TUBA4B, ZFAND2B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=28
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25786859
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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