A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719407



Internal ID10303043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:2307309..2308148hg38UCSC Ensembl
Outerchr2:2311081..2311920hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38840
hg19840
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6925915, essv6972791, essv6786832, essv6773681, essv6817042, essv6736172, essv6777186, essv6910312, essv6818665, essv6955154
SamplesSSM009, SSM050, SSM002, SSM029, SSM026, SSM019, SSM067, SSM066, SSM015, SSM010
Known GenesMYT1L
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)esv2719407
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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