A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3171n100



Internal ID22789258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41346146..41371345hg38UCSC Ensembl
chr17:39502398..39527597hg19UCSC Ensembl
chr17:36755924..36781123hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3825200
hg1925200
hg1825200
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1056093, nsv1061557, nsv1066604, nsv1066570, nsv1063713, nsv1060585, nsv1061321, nsv1060446
Samples
Known GenesKRT33A, KRT33B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3171n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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