A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730447



Internal ID9964763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:88747329..88747646hg38UCSC Ensembl
Outerchr5:88043146..88043463hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6676349, essv6860563, essv6670819, essv6956659, essv6963379, essv6890017, essv6848796, essv6907306, essv6974414, essv6711650, essv6822260, essv6865345, essv6683830, essv6794451, essv6693948
SamplesSSM071, SSM027, SSM079, SSM097, SSM042, SSM088, SSM029, SSM026, SSM089, SSM032, SSM031, SSM014, SSM086, SSM037, SSM034
Known GenesMEF2C
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)esv2730447
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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