A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751952



Internal ID12638818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25262579..25754679hg38UCSC Ensembl
Innerchr22:25658546..26150646hg19UCSC Ensembl
Innerchr22:23988546..24480646hg18UCSC Ensembl
Innerchr22:23983100..24475200hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38492101
hg19492101
hg18492101
hg17492101
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6986343, essv6983064, essv6983065, essv6983066, essv6986342
SamplesBEC_538
Known GenesADRBK2, CRYBB2P1, IGLL3P, LRP5L, MIR6817, MYO18B
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)esv2751952
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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