A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739024



Internal ID9973365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:123404570..123404934hg38UCSC Ensembl
Outerchr9:126166849..126167213hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38365
hg19365
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6850517, essv6705831, essv6672471, essv6731693, essv6944438, essv6890914, essv6842027, essv6727930, essv6823223, essv6791412, essv6687958, essv6787318, essv6811919, essv6775314, essv6948622, essv6827280, essv6803202, essv6783090, essv6908448, essv6819186, essv6866607, essv6838224, essv6958514, essv6870436, essv6970321, essv6677406, essv6779040, essv6861870, essv6884813, essv6965085, essv6691239, essv6976332
SamplesSSM036, SSM083, SSM027, SSM024, SSM046, SSM079, SSM097, SSM073, SSM088, SSM023, SSM028, SSM084, SSM090, SSM047, SSM069, SSM029, SSM026, SSM089, SSM035, SSM032, SSM031, SSM067, SSM014, SSM086, SSM066, SSM068, SSM040, SSM078, SSM080, SSM076, SSM070, SSM095
Known GenesDENND1A
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)esv2739024
Frequency
Sample Size96
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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