A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745447



Internal ID9979731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:4279566..4280163hg38UCSC Ensembl
Outerchr12:4388732..4389329hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38598
hg19598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6876630, essv6924293, essv6912554, essv6800180, essv6838578, essv6970873, essv6827663, essv6842399, essv6724463, essv6720641, essv6916088, essv6686987, essv6775662, essv6681533, essv6857140, essv6779424, essv6953185, essv6712955, essv6898888, essv6894609, essv6732086, essv6867101, essv6787719, essv6688248, essv6809339, essv6685049, essv6904880
SamplesSSM092, SSM013, SSM033, SSM084, SSM042, SSM089, SSM035, SSM025, SSM072, SSM016, SSM045, SSM067, SSM083, SSM005, SSM012, SSM066, SSM047, SSM069, SSM034, SSM087, SSM044, SSM004, SSM075, SSM015, SSM098, SSM018, SSM080
Known GenesCCND2
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)esv2745447
Frequency
Sample Size96
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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