A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656736



Internal ID9922841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:129501336..129503364hg38UCSC Ensembl
chr7:129141177..129143205hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg382029
hg192029
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6476833, essv6361101, essv5453757, essv6573781, essv6073394, essv6468026, essv5827548, essv6066760, essv6483491, essv6195446, essv6360914, essv6115434, essv5585315, essv6577357, essv5701093, essv5689976, essv6029700, essv6216574
SamplesNA19704, NA18917, NA19355, NA18519, NA19315, NA19445, NA19461, NA19453, NA18853, NA19338, NA19473, NA19435, NA19248, NA19474, NA19780, NA19711, NA18505, NA18487
Known GenesSMKR1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656736
Frequency
Sample Size1151
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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