A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728571



Internal ID10312207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:155836977..155837392hg38UCSC Ensembl
Outerchr4:156758129..156758544hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg38416
hg19416
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv856e201
Supporting Variantsessv6825995, essv6690087, essv6683647, essv6798454, essv6918358, essv6670486, essv6829817, essv6956336, essv6938604, essv6848512, essv6700622, essv6693771, essv6922698, essv6790124
SamplesSSM036, SSM039, SSM018, SSM026, SSM017, SSM031, SSM086, SSM081, SSM072, SSM080, SSM037, SSM022, SSM070, SSM034
Known GenesASIC5
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)esv2728571
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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