A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748895



Internal ID10329865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:77220733..77221278hg38UCSC Ensembl
Outerchr14:77687076..77687621hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38546
hg19546
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6900842, essv6673656, essv6873895, essv6857678, essv6862741, essv6698964, essv6953544, essv6924636, essv6685353, essv6741339, essv6959785, essv6867527, essv6870941, essv6945279, essv6803699, essv6735374, essv6846180, essv6779746, essv6966283, essv6812434, essv6831604, essv6936461, essv6823935, essv6977776, essv6702756, essv6868409, essv6815708, essv6885275, essv6888228, essv6928172, essv6885274, essv6836843, essv6678112
SamplesSSM100, SSM027, SSM011, SSM079, SSM087, SSM038, SSM039, SSM073, SSM088, SSM023, SSM090, SSM021, SSM018, SSM029, SSM096, SSM026, SSM089, SSM019, SSM032, SSM031, SSM067, SSM085, SSM081, SSM077, SSM076, SSM010, SSM091, SSM095, SSM025, SSM034, SSM052, SSM049
Known GenesTMEM63C
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)esv2748895
Frequency
Sample Size96
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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