A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678804



Internal ID9598223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99400038..99407544hg38UCSC Ensembl
Outerchr12:99399667..99407914hg38UCSC Ensembl
Innerchr12:99793816..99801322hg19UCSC Ensembl
Outerchr12:99793445..99801692hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg388248
hg198248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv306e199
Supporting Variantsessv5771445, essv5745525, essv5486944, essv5609631, essv6514949, essv5657730, essv6096207, essv5412779, essv6265772, essv6077699, essv5519190, essv5469402, essv6142277, essv6526208, essv6595412, essv5921041, essv6055315, essv5860148, essv5578968, essv6077784, essv6467913, essv6463820, essv5759454, essv5426727, essv6075724, essv5556611
SamplesNA20588, NA20783, NA20531, NA20532, NA20805, NA20759, NA20775, NA20811, NA20515, NA20505, NA20760, NA20536, NA20519, NA20581, NA20538, NA20542, NA20804, NA20530, NA20527, NA20792, NA20504, NA20544, NA20758, NA20528, NA20585, NA20754
Known GenesANKS1B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678804
Frequency
Sample Size1151
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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