A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990122



Internal ID12983231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41053922..41062722hg38UCSC Ensembl
Innerchr17:39210174..39218974hg19UCSC Ensembl
Innerchr17:36463700..36472500hg18UCSC Ensembl
Innerchr17:36463700..36472500hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg388801
hg198801
hg188801
hg178801
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751681
Supporting Variants
SamplesSPC_156
Known GenesKRTAP2-2, KRTAP2-3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990122
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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