A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677157



Internal ID9943262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138537753..138538361hg38UCSC Ensembl
chr5:137873442..137874050hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38609
hg19609
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6564376, essv5656428, essv5767369, essv5846291, essv6230977, essv6522551, essv5541559, essv6419242, essv5497769, essv5964701, essv6156787, essv5810455, essv5985566, essv5411994, essv5942260, essv6311009, essv6122776, essv6394486, essv5614213, essv5595220, essv6432667, essv5509869, essv6426606, essv5878374, essv6390056, essv5617675, essv5877177, essv5643719, essv6414512, essv5994595, essv5482721, essv5946630, essv5449589, essv6483753, essv6206253, essv5685707, essv5918829, essv6542108, essv5485966, essv5610420, essv6462542, essv6276566, essv6345298, essv6559291, essv6446785, essv5458267, essv5605748, essv5566454, essv6282890, essv5429196, essv6115746, essv6444271, essv5758909, essv5961066, essv6269269
SamplesHG01060, NA20761, NA18924, NA12286, NA18861, HG01188, NA18486, NA19393, HG00150, HG00261, HG01522, HG00271, HG00127, NA19315, HG00173, NA18923, NA20317, NA19916, NA07048, HG01365, NA19130, NA20541, NA19404, NA20759, NA20340, NA19985, HG00419, NA12748, HG01136, HG01187, NA12342, NA19455, HG00331, NA20538, NA18853, HG00276, HG00141, NA19318, NA19401, HG00258, HG00265, NA19321, NA18543, HG01551, NA19324, HG00111, NA19248, NA19472, HG00329, NA19713, NA19093, NA19102, NA19711, NA18522, NA19429
Known GenesETF1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677157
Frequency
Sample Size1151
Observed Gain0
Observed Loss55
Observed Complex0
Frequencyn/a


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