A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6854031



Internal ID9905426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:10067286..11886831hg38UCSC Ensembl
Outerchr3:10108970..11928305hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg381819546
hg191819336
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724892, esv2724895
Supporting Variants
SamplesSSM087
Known GenesATG7, ATP2B2, BRK1, FANCD2, FANCD2OS, GHRL, GHRLOS, HRH1, IRAK2, LINC00606, LINC00852, MIR885, SEC13, SLC6A1, SLC6A11, SLC6A1-AS1, TAMM41, TATDN2, VGLL4, VHL
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)essv6854031
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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