A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747288



Internal ID10328258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:39454333..39454679hg38UCSC Ensembl
Outerchr13:40028470..40028816hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38347
hg19347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6857435, essv6867031, essv6966031, essv6894782, essv6823773, essv6806480, essv6827870, essv6977490, essv6835011, essv6900733, essv6688402, essv6809492, essv6924480, essv6819872, essv6787896, essv6959510, essv6800369, essv6716937, essv6891401, essv6882433, essv6706340, essv6932002, essv6867340, essv6851435, essv6879585, essv6909013, essv6685205, essv6739464, essv6862559, essv6796164
SamplesSSM100, SSM071, SSM027, SSM075, SSM011, SSM079, SSM087, SSM097, SSM093, SSM074, SSM088, SSM018, SSM069, SSM029, SSM026, SSM089, SSM035, SSM094, SSM014, SSM086, SSM040, SSM072, SSM082, SSM020, SSM007, SSM078, SSM080, SSM034, SSM043, SSM098
Known GenesLHFP
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)esv2747288
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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