A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751128



Internal ID12984680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:110388451..110480143hg38UCSC Ensembl
Innerchr13:111040798..111132490hg19UCSC Ensembl
Innerchr13:109838799..109930491hg18UCSC Ensembl
Innerchr13:109838799..109930491hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3891693
hg1991693
hg1891693
hg1791693
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981493, essv6981495, essv6981496, essv6981494, essv6987972
SamplesBEC_280
Known GenesCOL4A2
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)esv2751128
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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