A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738317



Internal ID3288813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:71496841..71496944hg38UCSC Ensembl
Outerchr10:73256598..73256701hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6862028, essv6672689, essv6965307, essv6856741, essv6958769
SamplesSSM027, SSM088, SSM031, SSM087, SSM026
Known GenesCDH23
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2738317
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer