A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733213



Internal ID10316849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:167004281..167005006hg38UCSC Ensembl
Outerchr6:167417769..167418494hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38726
hg19726
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6875851, essv6830312, essv6957244, essv6975035, essv6746055, essv6671341, essv6754673, essv6856265, essv6934872, essv6748863, essv6715669, essv6740118, essv6963954, essv6849347, essv6911480
SamplesSSM027, SSM011, SSM058, SSM092, SSM021, SSM029, SSM026, SSM031, SSM086, SSM081, SSM015, SSM055, SSM043, SSM052, SSM056
Known GenesFGFR1OP
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)esv2733213
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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