A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34697



Internal ID12644047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16568781..16719151hg38UCSC Ensembl
Innerchr1:16895276..17045646hg19UCSC Ensembl
Innerchr1:16767863..16918233hg18UCSC Ensembl
Innerchr1:16640582..16790952hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38150371
hg19150371
hg18150371
hg17150371
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6990378, essv6986884, essv6979544
SamplesNA18570
Known GenesCROCCP2, ESPNP, LOC729574, MIR3675, MST1P2, NBPF1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34697
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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