A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25780788



Internal ID18814971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:35252863..35925533hg38UCSC Ensembl
Innerchr17:33579882..34252537hg19UCSC Ensembl
Innerchr17:30603995..31276650hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38672671
hg19672656
hg18672656
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892999
Supporting Variants
Samples
Known GenesAP2B1, C17orf50, C17orf66, CCL5, GAS2L2, MMP28, PEX12, RASL10B, RDM1, SLFN11, SLFN12, SLFN12L, SLFN13, SLFN14, SLFN5, SNORD7, TAF15
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=219
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25780788
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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