A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893555



Internal ID18837689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:219172722..219273269hg38UCSC Ensembl
Outerchr2:219172722..219273269hg38UCSC Ensembl
Innerchr2:220037444..220137991hg19UCSC Ensembl
Outerchr2:220037444..220137991hg19UCSC Ensembl
Innerchr2:219745688..219846235hg18UCSC Ensembl
Outerchr2:219745688..219846235hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38100548
hg19100548
hg18100548
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25786859
Samples
Known GenesABCB6, ANKZF1, ATG9A, CNPPD1, FAM134A, GLB1L, STK16, TUBA4A, TUBA4B, ZFAND2B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893555
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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