A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721013



Internal ID9955309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:157576812..157577153hg38UCSC Ensembl
Outerchr2:158433324..158433665hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38342
hg19342
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6906525, essv6836584, essv6793722, essv6955444, essv6697288, essv6840379, essv6807689, essv6962207, essv6929520, essv6825417, essv6714644, essv6704207, essv6683172, essv6832964, essv6669630, essv6722390, essv6726251, essv6675594, essv6797890, essv6889359, essv6869027, essv6700054, essv6847510, essv6973104, essv6950968, essv6968394, essv6853854, essv6946901, essv6864456, essv6926039, essv6898928, essv6942264
SamplesSSM027, SSM082, SSM084, SSM040, SSM043, SSM089, SSM090, SSM031, SSM025, SSM072, SSM020, SSM071, SSM032, SSM039, SSM024, SSM045, SSM083, SSM097, SSM100, SSM011, SSM028, SSM029, SSM034, SSM087, SSM038, SSM046, SSM019, SSM023, SSM075, SSM026, SSM014, SSM080
Known GenesACVR1C
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)esv2721013
Frequency
Sample Size96
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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