A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750816



Internal ID12637682
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 StatusM
Merged Variants
Supporting Variantsessv6981188, essv6985510
SamplesBEC_362
Known GenesCROCCP2, CROCCP3, 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)esv2750816
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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