A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6112860



Internal ID9090263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46868640..47075146hg38UCSC Ensembl
Outerchr10:46868270..47075517hg38UCSC Ensembl
Innerchr10:48664216..48870722hg19UCSC Ensembl
Outerchr10:48663845..48871092hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38207248
hg19207248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2665368
Supporting Variants
SamplesNA18579
Known GenesFRMPD2P1, PTPN20A, PTPN20B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6112860
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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