A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34588



Internal ID12643938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:105097165..105512795hg38UCSC Ensembl
Innerchr7:104737612..105153242hg19UCSC Ensembl
Innerchr7:104524848..104940478hg18UCSC Ensembl
Innerchr7:104331563..104747193hg17UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg38415631
hg19415631
hg18415631
hg17415631
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv237e55
Supporting Variantsessv6979002, essv6986765, essv6979004, essv6986764, essv6979003
SamplesNA12814
Known GenesKMT2E, PUS7, SRPK2
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)esv34588
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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