A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728666



Internal ID10312302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:163580773..163581124hg38UCSC Ensembl
Outerchr4:164501925..164502276hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38352
hg19352
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6872443, essv6719040, essv6963060, essv6802292, essv6947435, essv6726768, essv6811012, essv6956352, essv6794294, essv6704668, essv6886704, essv6848523, essv6670509, essv6854647, essv6777798, essv6822094, essv6786008, essv6968949, essv6813989, essv6899379, essv6893139, essv6708089, essv6693778, essv6700630, essv6896500, essv6865135, essv6808123, essv6683657, essv6817726
SamplesSSM100, SSM071, SSM027, SSM024, SSM075, SSM046, SSM079, SSM087, SSM039, SSM073, SSM041, SSM028, SSM069, SSM096, SSM026, SSM089, SSM031, SSM067, SSM044, SSM086, SSM040, SSM078, SSM037, SSM077, SSM076, SSM091, SSM034, SSM099, SSM098
Known GenesMARCH1
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)esv2728666
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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