A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657988



Internal ID9924093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:50311856..50315562hg38UCSC Ensembl
Outerchr8:50311485..50315932hg38UCSC Ensembl
Innerchr8:51224416..51228122hg19UCSC Ensembl
Outerchr8:51224045..51228492hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg384448
hg194448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1286e199
Supporting Variantsessv6239925, essv6554516, essv5917503, essv6289443, essv5999308, essv6381842, essv5618997, essv5714479, essv6408097, essv5760338, essv5680997, essv6330544, essv6021579, essv5420701, essv6342029, essv5801165, essv5520361, essv6590406, essv5703533, essv6563112, essv6035554
SamplesNA18861, NA18507, NA18504, NA19107, NA18489, NA18923, NA19130, NA18874, NA19159, NA19189, NA19209, NA18908, NA19200, NA19247, NA19152, NA18909, NA19108, NA19248, NA19093, NA19213, NA18487
Known GenesSNTG1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657988
Frequency
Sample Size1151
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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