A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988553



Internal ID12628507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46222758..46370877hg38UCSC Ensembl
Innerchr10:47593994..47742094hg19UCSC Ensembl
Innerchr10:47064000..47212100hg18UCSC Ensembl
Innerchr10:47064000..47212100hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38148120
hg19148101
hg18148101
hg17148101
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750958
Supporting Variants
SamplesBEC_568
Known GenesANTXRL, ANTXRLP1, FAM25B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988553
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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