A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985510



Internal ID12626280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16482199..16703219hg38UCSC Ensembl
Innerchr1:16808694..17029714hg19UCSC Ensembl
Innerchr1:16681281..16902301hg18UCSC Ensembl
Innerchr1:16554000..16775020hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38221021
hg19221021
hg18221021
hg17221021
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750816
Supporting Variants
SamplesBEC_362
Known GenesCROCCP2, CROCCP3, ESPNP, LOC729574, MIR3675, MST1P2, NBPF1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985510
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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